A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764078



Internal ID10031428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6934037..6954727hg38UCSC Ensembl
Innerchr8:6791559..6812249hg19UCSC Ensembl
Innerchr8:6778969..6799659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820691
hg1920691
hg1820691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992221, essv6992222
SamplesSW_1299, SW_1194
Known GenesDEFA4, DEFA8P
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2764078
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer